Purpose:
The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational
program that tracks the routine clinical outcomes for patients with Gaucher disease,
irrespective of treatment status. No experimental intervention is involved; patients in the
Registry undergo clinical assessments and receive care as determined by the patient's
treating physician.
The objectives of the Registry are:
- To enhance understanding of the variability, progression, identification, and natural
history of Gaucher disease, with the ultimate goal of better guiding and assessing
therapeutic intervention.
- To assist the Gaucher medical community with the development of recommendations for
monitoring patients, and to provide reports on patient outcomes, to optimize patient
care.
- To characterize the Gaucher disease population.
- To evaluate the long-term effectiveness of imiglucerase and of eliglustat.
Gaucher Pregnancy Sub-registry: The primary objective of this Sub-registry is to track
pregnancy outcomes, including complications and infant growth, in all women with Gaucher
disease during pregnancy, regardless of whether they receive disease-specific therapy. No
experimental intervention is given; thus a patient will undergo clinical assessments and
receive standard of care treatment as determined by the patient's physician.If a patient
consents to this Sub-registry, information about the patient's medical and obstetric history,
pregnancy, and birth will be collected, and, if a patient consents to data collection for her
infant, data on infant growth through month 36 postpartum will be collected.
Criteria:
Inclusion Criteria:
ICGG Gaucher Registry
- All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion
in the Registry. Confirmed diagnosis is defined as a documented β-glucocerebrosidase
deficiency and/or mutation in the β-glucocerebrosidase gene.
- For all patients, appropriate patient authorization will be obtained.
Gaucher Pregnancy Sub-registry:
- be enrolled in the ICGG Gaucher Registry.
- be pregnant, or have been pregnant with appropriate medical documentation available.
- provide a signed informed consent and authorization form(s) to participate in the
Sub-Registry prior to any Sub-Registry-related data collection being performed.
Exclusion Criteria:
- No exclusion criteria for participation in the ICGG Gaucher Registry and Sub-registry.